Canonical Allele Identifier: CA347486973

Gene: SFTPB

Linked Data

• dbSNP Id: rs769758832
• gnomAD v2: 2-85890485-C-A
• gnomAD v3: 2-85663362-C-A
• gnomAD v4: 2-85663362-C-A
• MyVariant Identifiers: chr2:g.85890485C>A (hg19) ; chr2:g.85663362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663362C>A , CM000664.2:g.85663362C>A	GRCh38
NC_000002.11:g.85890485C>A , CM000664.1:g.85890485C>A	GRCh37
NC_000002.10:g.85743996C>A	NCBI36
NG_016967.1:g.10380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.986G>T	ENSP00000386346.2:p.Trp329Leu
ENST00000519937.7:c.986G>T MANE Select	ENSP00000428719.2:p.Trp329Leu
ENST00000393822.7:c.986G>T	ENSP00000377409.4:p.Trp329Leu
ENST00000409383.5:c.1022G>T	ENSP00000386346.1:p.Trp341Leu
ENST00000428225.5:c.963G>T
ENST00000491167.1:n.186G>T
ENST00000494165.1:c.117G>T
ENST00000519937.6:c.986G>T	ENSP00000428719.2:p.Trp329Leu
NM_000542.3:c.1022G>T	NP_000533.3:p.Trp341Leu
NM_198843.2:c.1022G>T	NP_942140.2:p.Trp341Leu
XM_005264487.2:c.1022G>T	XP_005264544.1:p.Trp341Leu
XM_005264488.2:c.974G>T	XP_005264545.2:p.Trp325Leu
XM_005264490.3:c.986G>T	XP_005264547.2:p.Trp329Leu
XM_005264488.4:c.974G>T	XP_005264545.2:p.Trp325Leu
XM_005264490.4:c.986G>T	XP_005264547.2:p.Trp329Leu
NM_000542.4:c.986G>T	NP_000533.4:p.Trp329Leu
NM_001367281.1:c.986G>T	NP_001354210.1:p.Trp329Leu
NM_198843.3:c.986G>T	NP_942140.3:p.Trp329Leu
NM_000542.5:c.986G>T MANE Select	NP_000533.4:p.Trp329Leu